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Definition

A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome.

Acronym

MT-C2D

Synonyms

Complex 2 mitochondrial respiratory chain deficiency
Complex II mitochondrial respiratory chain deficiency
SDH-defective infantile leukoencephalopathy
Succinate CoQ reductase deficiency

Keywords

Primary mitochondrial disease

 
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